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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
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased ... OMIM:617006
Young Syndrome
Recurrent sinopulmonary infections, Obstructive azoospermia, Decreased fertility, Abnormality of ... ORPHA:3471
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... OMIM:614420
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... OMIM:619201
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... OMIM:247800
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... OMIM:613496
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... OMIM:615008
C3 Glomerulopathy 3
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... OMIM:614809
Nephrotic Syndrome, Type 3
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... OMIM:610725
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Renal insufficiency, Nephrotic syndrome, Recurrent pneumonia, Membranoprol... OMIM:613779
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis OMIM:613652
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Autoimmunity, Acute kidney injury, Anti-d... ORPHA:567544
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Anti-dsDNA antibody po... OMIM:619375
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Nephrotic Syndrome, Type 15
Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant... OMIM:617609
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Focal Segmental Glomerulosclerosis 10
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 6
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... OMIM:614650
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Nephrotic Syndrome, Type 21
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... OMIM:618594
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Podocyte foot process ef... OMIM:615861
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... OMIM:616892
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Hepatomegaly, Reduced natural killer cell activity, Anticardiolipin IgG antibody po... OMIM:615559
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility 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
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic ki... ORPHA:656
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Azoospermia, Bronch... OMIM:279000
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, External genital hypoplasia, Hypogonadism, Retinal degeneration... OMIM:615993
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse ... ORPHA:567548
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Nephrotic Syndrome, Type 6
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:614196
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency OMIM:611771
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Nephrotic Syndrome, Type 8
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... OMIM:615244
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:616730
Interstitial Lung Disease 1
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... OMIM:619611
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Autoimmunity, C3 nephritic factor positivity, Chronic kidney di... ORPHA:329918
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Oliver-Mcfarlane Syndrome
Delayed puberty, Small for gestational age, Cryptorchidism, Pigmentary retinopathy, Decreased res... OMIM:275400
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... OMIM:152700
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Abnormal circulating lipid concentration, Nephrotic syndrome, Membranoproliferative ... OMIM:608709
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Nephrotic Syndrome, Type 14
Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Lymphopenia... OMIM:617575
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Nephrotic Syndrome, Type 1
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffici... OMIM:256300
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Increased circulating antibody... OMIM:615285
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Hypogonadism, Retinal degeneration, Rod-cone dystrop... OMIM:615982
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Respiratory insufficiency, Hypoxemia, Nonproductive cough, Chr... ORPHA:723
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:614131
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... OMIM:615573
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Nephrotic Syndrome, Type 18
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:301028
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Focal Segmental Glomerulosclerosis 8
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Anemia, Focal segmenta... OMIM:613092
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Granuloma, Hepatic ... OMIM:619858
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:613913
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Nephrotic Syndrome, Type 17
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:618176
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, External genital hypoplasia OMIM:268010
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... OMIM:619902
Nephrotic Syndrome, Type 2
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ... OMIM:600995
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Failure to thrive OMIM:245590
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, C3 nephr... ORPHA:54370
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Arthritis, Mesangial hypercellularity, Elevated circulating C-reac... OMIM:616414
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:618348
Glomerulopathy With Fibronectin Deposits 2
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... OMIM:601894
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Focal Segmental Glomerulosclerosis 2
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... OMIM:603965
Hyperprolinemia Type 1
Hyperprolinemia, Proteinuria, Nephropathy, Prolinuria ORPHA:419
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 17
Male infertility OMIM:617214
Galactosemia I
Hemolytic anemia, Galactosuria, Hypergalactosemia, Albuminuria, Increased level of galactitol in ... OMIM:230400
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Hepatic steatosis, Oligospermia, Obesity OMIM:615703
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen... OMIM:619263
Glomerulopathy With Fibronectin Deposits 1
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:137950
Galloway-Mowat Syndrome 4
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... OMIM:617730
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Anemia, Reduced renal corticomedullary differentiati... OMIM:603278
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... OMIM:613237
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Fulminant hepatitis, Antinuclear antibod... ORPHA:2137
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... OMIM:616818
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine... OMIM:102700
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Cough, Dec... OMIM:300991
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Hemochromatosis, Type 2A
Hepatomegaly, Arthritis, Cirrhosis, Infertility, Splenomegaly, Azoospermia, Hypogonadotropic hypo... OMIM:602390
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:613944
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... OMIM:308990
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... OMIM:614377
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... OMIM:161900
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy, Autoimmunity, Lymphocytosis, Hepatic steatosis ORPHA:79087
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Bardet-Biedl Syndrome 2
External genital hypoplasia, Hypogonadism, Diabetes mellitus, Retinal degeneration, Rod-cone dyst... OMIM:615981
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Eosin... OMIM:618999
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Rheumatoid factor positive, Antineutrophil antibody posit... ORPHA:99931
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Lymphocytic interstitial pneumonia, Hepatomegaly, Failure to th... OMIM:618495
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Acute hepatic failure, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Elev... ORPHA:139402
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... ORPHA:730
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Weight loss ORPHA:141152
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinem... OMIM:620010
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Restrictive ventilatory defect, Retinal degeneration, Splenomegaly, Recu... OMIM:602271
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Nail-Patella-Like Renal Disease
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2613
Pauci-Immune Glomerulonephritis
Microscopic hematuria, Proteinuria, Cytoplasmic antineutrophil antibody positivity, Glomeruloneph... ORPHA:93126
Igg4-Related Kidney Disease
Chronic sinusitis, Increased circulating IgG4 level, Inflammatory abnormality of the skin, Enlarg... ORPHA:449395
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Sp... OMIM:105200
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... OMIM:301006
Ciliary Dyskinesia, Primary, 41
Immotile sperm, Infertility, Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Impaire... OMIM:618449
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Abn... OMIM:613807
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Increased circulating IgE level, Neutrop... OMIM:304790
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... ORPHA:93109
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Hemolytic-uremic syndrome, Renal i... OMIM:619644
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ... ORPHA:3261
Fibronectin Glomerulopathy
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... ORPHA:84090
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy, Cerebellar atrophy OMIM:613909
Ciliary Dyskinesia, Primary, 40
Chronic sinusitis, Cough, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... OMIM:618300
Stt3B-Cdg
Cryptorchidism, Micropenis, Failure to thrive, Respiratory distress, Small scrotum, Optic atrophy... ORPHA:370924
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Immotile sperm, Chronic rhinitis, Decreased nasal nitric oxide, Ab... OMIM:617091
Nephrotic Syndrome, Type 22
Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Failure to thrive, Respiratory distress, Small scrotum, Optic atrophy... OMIM:615597
Morm Syndrome
Retinal dystrophy, Truncal obesity, Micropenis, Retinal atrophy ORPHA:75858
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... ORPHA:8
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... ORPHA:50251
Alport Syndrome 3, Autosomal Dominant
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ... OMIM:104200
Interstitial Nephritis, Karyomegalic
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... OMIM:614817
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:620049
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... ORPHA:217563
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... ORPHA:444463
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Immotile sperm, Chronic bronchitis, Respiratory insufficiency due ... OMIM:614874
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism OMIM:613724
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... ORPHA:52901
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614376
Atypical Hemolytic Uremic Syndrome
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria ORPHA:2134
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:161950
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Short sperm flagella, Chronic cou... OMIM:620197
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor positive, Ureteropelvic junct... ORPHA:49041
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... ORPHA:567546
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:618349
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Autoimmunity, Arthritis OMIM:216950
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephronophthisis 16
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... OMIM:615382
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis, Male infertility, Immotile ci... OMIM:618801
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Pleural effusion, Diabetes mellitus, Hepatomegaly, ... OMIM:235200
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Bronchopulmonary Dysplasia
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, P... ORPHA:70589
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Desquamative interstitial pneumonitis, Recurrent lower respiratory tract infe... OMIM:615952
48,Xxyy Syndrome
Chronic otitis media, Decreased testicular size, Cryptorchidism, Recurrent respiratory infections... ORPHA:10
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... ORPHA:37042
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
49,Xyyyy Syndrome
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Primary gonadal insuff... ORPHA:99330
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Nep... ORPHA:100024
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa... OMIM:619773
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Chronic oral candidi... OMIM:613953
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Infertility, Respiratory distress, Sinusitis, Bronchiectasis, I... OMIM:606763
48,Xyyy Syndrome
Primary gonadal insufficiency, Acne, Azoospermia, Recurrent upper respiratory tract infections, M... ORPHA:99329
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Infertility, Bronchi... OMIM:615872
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Recurrent otitis media, Recurrent pneumonia, Redu... OMIM:619436
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholester... OMIM:245900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Senior-Loken Syndrome 9
Hypogonadism, Tubulointerstitial nephritis, Cholestasis, Obesity, Macular degeneration, Hepatic f... OMIM:616629
Lysinuric Protein Intolerance
Oroticaciduria, Hemophagocytosis, Hyperlysinuria, Decreased glomerular filtration rate, Hyperalan... ORPHA:470
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Preeclampsia
Abnormality of the hepatic vasculature, Proteinuria, Abnormality of the kidney, Autoimmunity, Acu... ORPHA:275555
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... OMIM:603909
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid... ORPHA:85445
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Ulcerative colitis, Bronchiolitis, Enterocolitis, Interstitia... OMIM:614878
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis OMIM:619603
Thymoma
Glomerulonephritis, Autoimmunity, Aplastic anemia, Pure red cell aplasia, Leukemia, Anti-acetylch... ORPHA:99867
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent sinopulmonary infections, Chronic sinusitis, Atelectasis, Aspleni... ORPHA:244
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Hepatomegaly, Recurrent otitis media, Pneumo... OMIM:608971
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Autoimmune Lymphoproliferative Syndrome
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... OMIM:601859
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ... ORPHA:443811
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue inappropriate for... ORPHA:261519
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Female infertility, Bronchiectasis, Rhinorrhea, Wheezing OMIM:617577
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... OMIM:614837
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Simple Cryoglobulinemia
Microscopic hematuria, Proteinuria, Abnormality of the kidney, Chronic lymphatic leukemia, Rheuma... ORPHA:91139
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Respiratory ... OMIM:615500
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Smal... ORPHA:1916
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... ORPHA:60032
Anti-Glomerular Basement Membrane Disease
Proteinuria, Glomerulopathy, Autoimmunity, Anemia, Renal insufficiency, Arthritis, Hematuria ORPHA:375
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Autoimmune thrombo... OMIM:618534
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Gaucher Disease Type 2
Recurrent respiratory infections, Cough, Hepatomegaly, Respiratory distress, Abnormal pattern of ... ORPHA:77260
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Cough, Failure to thrive, ... OMIM:263000
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Dyspnea, Respiratory failure ORPHA:330021
Familial Peripheral Male-Limited Precocious Puberty
Acne, Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Trimethylaminuria
Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... OMIM:615482
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Male infertility OMIM:615842
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Dec... OMIM:308700
Galactosemia Iii
Jaundice, Galactosuria, Hypergalactosemia, Hepatomegaly, Aminoaciduria, Splenomegaly OMIM:230350
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Anemia, Renal insufficiency, Hypercalcemia ORPHA:2668
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... ORPHA:1303
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... ORPHA:839
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Proteinuria, Microscopic hematuria, Autoimmunity, Stag... ORPHA:1830
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Heme Oxygenase 1 Deficiency
Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy,... OMIM:614034
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Cone/cone-rod dystrophy, Diabetes mellitus, Retinal degeneration, Optic atrophy OMIM:249270
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... OMIM:300200
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Proteinuria, Inflammation of the large intestine, Hyperuricemia, Decrea... OMIM:232220
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Premature ovarian insufficiency, Respiratory infections in early l... ORPHA:96179
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Hypospadias OMIM:619428
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumon... OMIM:269840
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... OMIM:619466
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... OMIM:263200
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly ORPHA:231154
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Elev... OMIM:613490
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration OMIM:153700
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204500
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Increased circulating antibod... ORPHA:400
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... OMIM:614897
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood u... ORPHA:251004
Denys-Drash Syndrome
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... OMIM:194080
Myotonic Dystrophy 1
Testicular atrophy, Cerebral atrophy, Hypogonadism, Facial diplegia, Respiratory distress, Cholel... OMIM:160900
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Failure to thrive in infancy, Hypoxemia, Crazy ... ORPHA:264675
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... OMIM:178500
Systemic Sclerosis
Myocarditis, Proteinuria, Abnormality of the kidney, Anti-centromere antibody positivity, Glomeru... ORPHA:90291
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Chronic pulmo... OMIM:616481
Al Amyloidosis
Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, Increased circulatin... ORPHA:85443
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Abnormal axon... OMIM:613808
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Macular degeneration, Retinal degeneration, Increased extraneuronal autofluores... OMIM:204200
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:612649
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Respiratory insufficiency, Failure to thrive, Female infertility... OMIM:619518
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... ORPHA:280679
Bardet-Biedl Syndrome 17
Macular atrophy, Micropenis, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Bone sp... OMIM:615994
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Chronic bronchitis, Respiratory insufficiency due to defective ... OMIM:614935
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Galloway-Mowat Syndrome 3
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Glo... OMIM:617729
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Renal tubular atrophy, Leukopenia, Enlarged kidney, Anemia, Bone marrow hypocellular... OMIM:617303
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Cerebellar atrophy, Retinal degeneration OMIM:614322
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Complement Factor I Deficiency
Recurrent urinary tract infections, Glomerulonephritis, Pyelonephritis, Renal insufficiency, Recu... OMIM:610984
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Hypospadias OMIM:300934
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Decreased testicular size, Micropenis, Hypogonadism, Abnormality of th... OMIM:209900
Dent Disease 2
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ... OMIM:300555
Pediatric Systemic Lupus Erythematosus
Dark urine, Discoid lupus rash, Antinuclear antibody positivity, Proteinuria, Leukopenia, Microan... ORPHA:93552
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Chronic kidney disease, Renal cyst, Anemia, Gout, Nephropathy, Elevated circulatin... OMIM:617056
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
48,Xxxy Syndrome
Chronic otitis media, Decreased testicular size, Cryptorchidism, Recurrent respiratory infections... ORPHA:96263
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Cirrhosis, Pulmonary fibrosis, Interstitial pneumonitis, Hepatic necrosis OMIM:127550
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Cryptorchidism, Cerebral cortical atrophy, Choroidal neovascularization ORPHA:404451
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Macular degeneration, Retinal degeneration, Optic atrophy, Increased neuronal a... OMIM:256730
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Chronic si... OMIM:612650
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Retinitis Pigmentosa 31
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:609923
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Immunodeficiency 23
Hemolytic anemia, Abscess, Rheumatoid factor positive, Increased circulating IgE level, Chronic m... OMIM:615816
Diffuse Alveolar Hemorrhage
Proteinuria, Autoimmunity, Leukocytosis, Anemia, Rheumatoid factor positive, Antineutrophil antib... ORPHA:90060
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Hemolytic anemia, Increased circulating antibody level, Autoimmune thrombocytopenia... OMIM:614470
Thrombotic Thrombocytopenic Purpura
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Renal insuf... ORPHA:54057
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Recurrent ... OMIM:617514
Galloway-Mowat Syndrome 5
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:617731
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Nephrotic syndrome, Macronod... OMIM:215250
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea, Hypoplasia of the uterus OMIM:617442
Hypouricemia, Renal, 1
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Hypouricemia, Renal... OMIM:220150
8P11.2 Deletion Syndrome
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Splenomegaly, Azoospermia, Patent ductus arter... ORPHA:251066
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria ORPHA:882
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Elevated circulating creatine kinase concentration, Increased circulati... ORPHA:36234
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, External genital hypoplasia, Hepatomegaly, Elevated hepatic tra... ORPHA:329178
Frasier Syndrome
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... ORPHA:650
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Diabetes insipidus, Amenorrhea ORPHA:1445
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... OMIM:616217
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Red urine, Increased urinary porphobilinogen, Increased urine ... OMIM:618892
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Brucellosis
Myocarditis, Leukocytosis, Rheumatoid factor positive, Granuloma, Hepatomegaly, Intrarenal absces... ORPHA:1304
Lymphatic Filariasis
Hypereosinophilia, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Knee osteoarthriti... ORPHA:2035
Postinfectious Vasculitis
Increased circulating IgA level, Gastrointestinal inflammation, Proteinuria, Cytoplasmic antineut... ORPHA:48435
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory insufficiency, Respiratory di... ORPHA:1145
Myotubular Myopathy With Abnormal Genital Development
Micropenis, Atelectasis, Ambiguous genitalia, male, Neonatal death, Respiratory distress, Bilater... OMIM:300219
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtr... OMIM:232200
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Rheumatoid factor positive, Hepatomegaly, Microcytic anemia, Lymphadenopat... OMIM:618852
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Female infertility... OMIM:612310
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Abnormality of the liver, Hepatomegaly, Respiratory... ORPHA:254864
Tyrosinemia, Type I
Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Elevated circulating alpha-f... OMIM:276700
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Hepatic steatosis, Failure to thrive ORPHA:26792
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Chronic sinusitis, Cough, Decreased nasal nitric oxide, Recurrent otitis media, Male infertility,... OMIM:619607
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... OMIM:208540
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Oligomenorrhea, Hypogonadism, Retinal atrophy, Pancreatitis, Infertility, Delayed menarche, Parie... ORPHA:412057
49,Xxxxy Syndrome
Chronic otitis media, Decreased testicular size, Cryptorchidism, Recurrent respiratory infections... ORPHA:96264
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Hepatomegaly, Azoospermia, Elevated hepatic iron concentration, Splenomegaly OMIM:615234
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... OMIM:174000
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Ciliary Dyskinesia, Primary, 13
Infertility, Recurrent otitis media, Absent outer dynein arms, Absent inner dynein arms, Bronchie... OMIM:613193
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disea... OMIM:612925
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Mogs-Cdg
Hepatosplenomegaly, Inappropriate antidiuretic hormone secretion, Absent brainstem auditory respo... ORPHA:79330
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia, Male infertility OMIM:277180
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Retinal atrophy, Respiratory insufficiency, Apnea, Neonatal death, Cerebellar a... OMIM:610127
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... OMIM:619531
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease... OMIM:615513
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Chronic hepatitis, Keratoconjunctivitis sicca, Usual... ORPHA:289390
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Cryptorchidism, Micropenis, Retinal detachment, Failure to thrive, Res... OMIM:607143
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Respiratory ... OMIM:615444
Papa Syndrome
Proteinuria, Increased inflammatory response, Increased circulating antibody level, Pustule, Arth... ORPHA:69126
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612926
Galloway-Mowat Syndrome 1
Proteinuria, Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmenta... OMIM:251300
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Perching Syndrome
Respiratory distress, Rod-cone dystrophy OMIM:617055
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Recurrent bronchopulmonary infections ORPHA:85334
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... OMIM:612924
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Neonatal respiratory distress, Chronic sinusitis, Productive cough, Decreas... OMIM:618063
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal insufficiency, Elevated circu... ORPHA:228302
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy, Abnormal circulating lipid concentration ORPHA:225
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Retinal degeneration, Abnormality of pattern visual evoked potentials, Abnormalit... ORPHA:166035
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Elevated hepatic transaminase, Fa... OMIM:613561
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Rheumatoid factor positive, Salmonella osteomyelitis, H... OMIM:209950
Alg6-Cdg
Jaundice, Abnormality of the liver, Puberty and gonadal disorders, Retinal degeneration, Failure ... ORPHA:79320
Glycogen Storage Disease Xi
Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate... OMIM:612933
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Neonatal death, Stillbirth, Respiratory distress, Eczema OMIM:619751
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Proteinuria, Abnormality of the kidney, Hepatic fibrosis, Hepatomegaly,... ORPHA:369
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Inflammatory abnormality of the skin, Absent tonsils, Increased circulating IgE lev... ORPHA:277
Glycogen Storage Disease X
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:261670
Congenital Myopathy 10A, Severe Variant
Restrictive ventilatory defect, Respiratory insufficiency, Failure to thrive, Respiratory distres... OMIM:614399
Cryoglobulinemic Vasculitis
Proteinuria, Glomerulopathy, Abnormality of the liver, Viral hepatitis, Renal insufficiency, Kera... ORPHA:91138
Bardet-Biedl Syndrome 9
Truncal obesity, Retinal degeneration, Irregular menstruation, Bone spicule pigmentation of the r... OMIM:615986
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Primary amenorrhea, Obesity, Hypergonadotropic hypogonadism, F... ORPHA:91
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Proteinuria, Renal amyloidosis, Erysipelas, Renal insufficiency OMIM:134610
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... OMIM:615415
Immunodeficiency, Common Variable, 2
Autoimmunity, Decreased circulating IgA level, Hepatomegaly, Follicular hyperplasia, Recurrent pn... OMIM:240500
Nephronophthisis 15
Obesity, Elevated hepatic transaminase, Retinal degeneration OMIM:614845
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Recurrent urinary tract infections, Lym... OMIM:619802
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... ORPHA:1302
Wagner Vitreoretinopathy
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... OMIM:143200
Neuraminidase Deficiency
Vacuolated lymphocytes, Proteinuria, Bone-marrow foam cells, Hepatomegaly, Urinary excretion of s... OMIM:256550
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Albuminuria, Elevated circulating long chain fatty aci... OMIM:214100
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation